Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction

Citation
M. Syrrou et al., Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction, AM J MED G, 84(3), 1999, pp. 306-308
Citations number
11
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
84
Issue
3
Year of publication
1999
Pages
306 - 308
Database
ISI
SICI code
0148-7299(19990528)84:3<306:FXPA(E>2.0.ZU;2-R
Abstract
We studied five groups of women with ovarian dysfunction for the CGG; expan sion in FMR1 and a (TA)n polymorphism in the estrogen receptor gene : a) po or responders to ovarian stimulation as part of in vitro fertilization (n = 13); b) women with familial premature ovarian failure (POF) (n = 7); c) sp oradic cases with POF (n = 16); d) FRAXA premutation carriers with POF (n = 7); and e) FRAXA premutation carriers without POF (n = 9), FRAXA premutati on was found in one woman with familial POF. A significant association of f amilial POF and FRAXA premutation carriers with POF having low copy of the (TA)n polymorphism as compared to controls was observed, Our preliminary da ta suggest a potential role of the estrogen receptor in POF, and it may inf luence the variable age of menopause of the FRAXA premutation carriers. (C) 1999 Wiley-Liss, Inc.